C57BL/6N-Smad4tm1.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:16199 |
| Citation information | RRID:IMSR_EM:16199 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6N-Smad4tm1.1Ics/Ics |
| Alternative name | Smad4tm1.1Ics/Ics |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Smad4tm1.1Ics |
| Gene/Transgene symbol | Smad4 |
Information from provider
| Provider | Carine Le goff |
| Provider affiliation | Équipe n°2 : Cardiovascular structural diseases, INSERM U1148, Site hôpital Bichat |
| Genetic information | A loxP site was inserted into intron 11 and a STOP cassette (containing 3x SV40 poly(A) signal sequences), an FRT site-flanked neomycin resistance gene cassette, 3' sequence of intron 11 and a modified copy of exon 12 were inserted into exon 12 (ENSMUSE00000337424, Smad4-201, GRCm39) immediately after the stop codon. The modification entails changing isoleucine codon 499 (ATT) to valine (GTT) (c.1495A>G p.I499V). The neo cassette was removed through subsequent flp-mediated recombination. This allele expresses the wild-type protein and only after cre-mediated deletion of the endogenous exon 12 coding region it will express the mutated protein. |
| Phenotypic information | Homozygous:N/AHeterozygous:N/A |
| Breeding history | C57BL/6NCrl 100% |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Myhre syndrome / Orphanet_2588
- Generalized juvenile polyposis/juvenile polyposis coli / Orphanet_329971
- Familial thoracic aortic aneurysm and aortic dissection / Orphanet_91387
- Hereditary hemorrhagic telangiectasia / Orphanet_774
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